{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2166414983",
  "communityStandardTitle": [
    "NM_000275.3(OCA2):c.913C= (p.Arg305=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1800401",
        "rs": 1800401
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 28014907,
          "referenceAllele": "G",
          "start": 28014906
        }
      ],
      "hgvs": [
        "NC_000015.10:g.28014907G=",
        "CM000677.2:g.28014907G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 28260053,
          "referenceAllele": "G",
          "start": 28260052
        }
      ],
      "hgvs": [
        "NC_000015.9:g.28260053G=",
        "CM000677.1:g.28260053G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 25933648,
          "referenceAllele": "G",
          "start": 25933647
        }
      ],
      "hgvs": [
        "NC_000015.8:g.25933648G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 89406,
          "referenceAllele": "C",
          "start": 89405
        }
      ],
      "hgvs": [
        "NG_009846.1:g.89406C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001675"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1026,
          "referenceAllele": "C",
          "start": 1025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "ENST00000354638.8:c.913C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346659.3:p.Arg305="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748587",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000354638.8:c.913C="
          },
          "RefSeq": {
            "hgvs": "NM_000275.3:c.913C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000346659.3:p.Arg305="
          },
          "RefSeq": {
            "hgvs": "NP_000266.2:p.Arg305="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1023,
          "referenceAllele": "C",
          "start": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "ENST00000353809.9:c.913C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261276.8:p.Arg305="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1069,
          "referenceAllele": "C",
          "start": 1068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "ENST00000354638.7:c.913C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346659.3:p.Arg305="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263195"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081907189",
      "coordinates": [
        {
          "allele": "C",
          "end": 1023,
          "referenceAllele": "C",
          "start": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "NM_000275.2:c.913C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000266.2:p.Arg305="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006337"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1023,
          "referenceAllele": "C",
          "start": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "NM_001300984.1:c.913C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001287913.1:p.Arg305="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025022"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2295,
          "referenceAllele": "C",
          "start": 2294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_011521639.1:c.937C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519941.1:p.Arg313="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088799"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1051,
          "referenceAllele": "C",
          "start": 1050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_011521640.1:c.913C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519942.1:p.Arg305="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088800"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2293,
          "referenceAllele": "C",
          "start": 2292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_011521641.1:c.937C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519943.1:p.Arg313="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088801"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2294,
          "referenceAllele": "C",
          "start": 2293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_011521642.1:c.937C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519944.1:p.Arg313="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088802"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2292,
          "referenceAllele": "C",
          "start": 2291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_011521643.1:c.937C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519945.1:p.Arg313="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088803"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2294,
          "referenceAllele": "C",
          "start": 2293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_011521644.1:c.937C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519946.1:p.Arg313="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088804"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2294,
          "referenceAllele": "C",
          "start": 2293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_011521645.1:c.937C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519947.1:p.Arg313="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088805"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2297,
          "referenceAllele": "C",
          "start": 2296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_011521646.1:c.937C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519948.1:p.Arg313="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088806"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2297,
          "referenceAllele": "C",
          "start": 2296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_011521647.1:c.937C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519949.1:p.Arg313="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088807"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2298,
          "referenceAllele": "C",
          "start": 2297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XR_931843.1:n.2298C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS127921"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1053,
          "referenceAllele": "C",
          "start": 1052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_011521640.2:c.913C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519942.1:p.Arg305="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546251"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1004,
          "referenceAllele": "C",
          "start": 1003
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_017022255.1:c.937C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016877744.1:p.Arg313="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573254"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1501,
          "referenceAllele": "C",
          "start": 1500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_017022256.1:c.937C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016877745.1:p.Arg313="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573255"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1026,
          "referenceAllele": "C",
          "start": 1025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_017022257.1:c.937C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016877746.1:p.Arg313="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573256"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1026,
          "referenceAllele": "C",
          "start": 1025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_017022258.1:c.937C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016877747.1:p.Arg313="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573257"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1026,
          "referenceAllele": "C",
          "start": 1025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_017022259.1:c.937C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016877748.1:p.Arg313="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573258"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1026,
          "referenceAllele": "C",
          "start": 1025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_017022260.1:c.937C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016877749.1:p.Arg313="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573259"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1520,
          "referenceAllele": "C",
          "start": 1519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_017022261.1:c.742C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016877750.1:p.Arg248="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573260"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1026,
          "referenceAllele": "C",
          "start": 1025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_017022262.1:c.937C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016877751.1:p.Arg313="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573261"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1026,
          "referenceAllele": "C",
          "start": 1025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_017022263.1:c.937C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016877752.1:p.Arg313="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573262"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1026,
          "referenceAllele": "C",
          "start": 1025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_017022264.1:c.937C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016877753.1:p.Arg313="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573263"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1026,
          "referenceAllele": "C",
          "start": 1025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_017022265.1:c.937C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016877754.1:p.Arg313="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573264"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1026,
          "referenceAllele": "C",
          "start": 1025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XR_001751294.1:n.1026C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598213"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081907189",
      "coordinates": [
        {
          "allele": "C",
          "end": 1026,
          "referenceAllele": "C",
          "start": 1025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "NM_000275.3:c.913C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000266.2:p.Arg305="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662379",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000354638.8:c.913C="
          },
          "RefSeq": {
            "hgvs": "NM_000275.3:c.913C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000346659.3:p.Arg305="
          },
          "RefSeq": {
            "hgvs": "NP_000266.2:p.Arg305="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1026,
          "referenceAllele": "C",
          "start": 1025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "NM_001300984.2:c.913C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001287913.1:p.Arg305="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683292"
    }
  ],
  "type": "nucleotide"
}